Significant association of HLA-B and HLA-DRB1 alleles with cleft lip with or without cleft palate

Nucleotide sequence level typing of HLA-B, -DRB1, and -DPB1 alleles was per formed on Japanese patients with cleft lip with or without cleft palate (CL /P). Two HLA-B alleles, B*1501 and B*5101, showed a significant positive as sociation with CLP. The increase of B*1501 was evident in female patients ( OR=3.6, P-c=0.003), whereas the increase of B*5101 was evident in male pati ents (OR=3.7, P-c < 0.001). One HLA-DRB1 allele, HLA-DRB1*D802 also showed an increase in CL/P patients. Conversely, HLA-B*4403 and DRB1*1302 were not observed in the patient group (P-c=0.01 and P-c=0.02, respectively). No HL A-DPB1 alleles showed significant association with CLIP. Thus, the present study indicates that HLA alleles, or closely linked loci, may be involved i n the pathogenesis of CL/P.